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    Tag: Genetics

    A GP guide to managing gout

    June 28, 2025

    Gout is one of the most common inflammatory joint diseases and presents a significant burden for many people in Australia. There are several gaps between…

    Mitochondrial disease and the role of the GP

    June 2, 2025
    In this explainer video, Dr Christine Wools discusses symptom management in the primary care setting

    A GP guide to hypermobile Ehlers-Danlos syndrome

    May 31, 2025

    Need to know: The Ehlers-Danlos syndromes (EDS) are a group of 14 heritable connective tissue disorders (HCTDs).1 Hypermobile Ehlers-Danlos syndrome (hEDS), previously known as type…

    Dr Martin Pal (PhD).

    Landmark gene editing creates a medicine made for just one patient

    May 19, 2025

    CRISPR technology has shown strong results treating a baby with a life-threatening liver cell mutation, with scientists saying it is the first documented use of…

    Case reports: Mitochondrial disease uncovered

    April 28, 2025
    Meet three very different patients and learn how to manage their symptoms based on the patient care standards

    ‘Don’t be scared to treat mitochondrial disease’

    April 8, 2025
    First Australian consensus statement for managing complex group of genetic disorders

    A GP guide to newborn bloodspot screening

    April 5, 2025

    Need to know: Newborn bloodspot screening is a funded program offered to all Australian babies that aims to save brains and lives. Which conditions will…

    Parenthood and the three-gene screen

    November 23, 2024

    Reproductive genetic carrier screening (RGCS) aims to identify couples of reproductive age who have a high chance of having children with severe or life-threatening inherited…

    Associate Professor Roderick Clifton-Bligh

    ‘My message to all clinicians is that delayed diagnosis can be devastating’: Endocrinologist on rare bone diseases

    November 19, 2024
    The endocrinologist warns that patients are missing out on innovative treatments

    Spot Dx — Do these brown rings catch your eye?

    August 2, 2024

    Sera is a 35-year-old receptionist whose optometrist has recommended she see her GP regarding corneal lesions. Test your clinical know-how by taking the quiz below.…

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    Spot Dx — Do these brown rings catch your eye?

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